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Sarah Bowdin

TitleStaff Geneticist, Director, Center for Genetic Medicine (CGM), C
InstitutionThe Hospital for Sick Children
DepartmentClinical and Metabolic Genetics
Address555 University Avenue
Toronto ON M5G 1X8
Phone416-813-1500
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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    1. Perry LD, Hogg SL, Bowdin S, Ambegaonkar G, Parker AP. Fifteen-minute consultation: The efficient investigation of infantile and childhood epileptic encephalopathies in the era of modern genomics. Arch Dis Child Educ Pract Ed. 2021 Jan 07. PMID: 33414255.
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    2. Reuter MS, Chaturvedi RR, Liston E, Manshaei R, Aul RB, Bowdin S, Cohn I, Curtis M, Dhir P, Hayeems RZ, Hosseini SM, Khan R, Ly LG, Marshall CR, Mertens L, Okello JBA, Pereira SL, Raajkumar A, Seed M, Thiruvahindrapuram B, Scherer SW, Kim RH, Jobling RK. The Cardiac Genome Clinic: implementing genome sequencing in pediatric heart disease. Genet Med. 2020 Jun; 22(6):1015-1024. PMID: 32037394.
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    3. Baynam GS, Groft S, van der Westhuizen FH, Gassman SD, du Plessis K, Coles EP, Selebatso E, Selebatso M, Gaobinelwe B, Selebatso T, Joel D, Llera VA, Vorster BC, Wuebbels B, Djoudalbaye B, Austin CP, Kumuthini J, Forman J, Kaufmann P, Chipeta J, Gavhed D, Larsson A, Stojiljkovic M, Nordgren A, Roldan EJA, Taruscio D, Wong-Rieger D, Nowak K, Bilkey GA, Easteal S, Bowdin S, Reichardt JKV, Beltran S, Kosaki K, van Karnebeek CDM, Gong M, Shuyang Z, Mehrian-Shai R, Adams DR, Puri RD, Zhang F, Pachter N, Muenke M, Nellaker C, Gahl WA, Cederroth H, Broley S, Schoonen M, Boycott KM, Posada M. A call for global action for rare diseases in Africa. Nat Genet. 2020 01; 52(1):21-26. PMID: 31873296.
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    4. Rayment JH, Jobling R, Bowdin S, Cutz E, Dell SD. Prolidase deficiency diagnosed by whole exome sequencing in a child with pulmonary capillaritis. ERJ Open Res. 2019 Apr; 5(2). PMID: 31041317.
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    5. French CE, Delon I, Dolling H, Sanchis-Juan A, Shamardina O, Mégy K, Abbs S, Austin T, Bowdin S, Branco RG, Firth H, Rowitch DH, Raymond FL. Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children. Intensive Care Med. 2019 05; 45(5):627-636. PMID: 30847515.
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    6. Szego MJ, Meyn MS, Shuman C, Zlotnik Shaul R, Anderson JA, Bowdin S, Monfared N, Hayeems RZ. Views from the clinic: Healthcare provider perspectives on whole genome sequencing in paediatrics. Eur J Med Genet. 2019 May; 62(5):350-356. PMID: 30503855.
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    7. Hosseini SM, Kim R, Udupa S, Costain G, Jobling R, Liston E, Jamal SM, Szybowska M, Morel CF, Bowdin S, Garcia J, Care M, Sturm AC, Novelli V, Ackerman MJ, Ware JS, Hershberger RE, Wilde AAM, Gollob MH. Reappraisal of Reported Genes for Sudden Arrhythmic Death: Evidence-Based Evaluation of Gene Validity for Brugada Syndrome. Circulation. 2018 09 18; 138(12):1195-1205. PMID: 29959160.
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    8. Costain G, Jobling R, Walker S, Reuter MS, Snell M, Bowdin S, Cohn RD, Dupuis L, Hewson S, Mercimek-Andrews S, Shuman C, Sondheimer N, Weksberg R, Yoon G, Meyn MS, Stavropoulos DJ, Scherer SW, Mendoza-Londono R, Marshall CR. Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing. Eur J Hum Genet. 2018 05; 26(5):740-744. PMID: 29453418.
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    9. Reuter MS, Walker S, Thiruvahindrapuram B, Whitney J, Cohn I, Sondheimer N, Yuen RKC, Trost B, Paton TA, Pereira SL, Herbrick JA, Wintle RF, Merico D, Howe J, MacDonald JR, Lu C, Nalpathamkalam T, Sung WWL, Wang Z, Patel RV, Pellecchia G, Wei J, Strug LJ, Bell S, Kellam B, Mahtani MM, Bassett AS, Bombard Y, Weksberg R, Shuman C, Cohn RD, Stavropoulos DJ, Bowdin S, Hildebrandt MR, Wei W, Romm A, Pasceri P, Ellis J, Ray P, Meyn MS, Monfared N, Hosseini SM, Joseph-George AM, Keeley FW, Cook RA, Fiume M, Lee HC, Marshall CR, Davies J, Hazell A, Buchanan JA, Szego MJ, Scherer SW. The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants. CMAJ. 2018 02 05; 190(5):E126-E136. PMID: 29431110.
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    10. Mathew J, Zahavich L, Lafreniere-Roula M, Wilson J, George K, Benson L, Bowdin S, Mital S. Utility of genetics for risk stratification in pediatric hypertrophic cardiomyopathy. Clin Genet. 2018 02; 93(2):310-319. PMID: 29053178.
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    11. Hayeems RZ, Bhawra J, Tsiplova K, Meyn MS, Monfared N, Bowdin S, Stavropoulos DJ, Marshall CR, Basran R, Shuman C, Ito S, Cohn I, Hum C, Girdea M, Brudno M, Cohn RD, Scherer SW, Ungar WJ. Care and cost consequences of pediatric whole genome sequencing compared to chromosome microarray. Eur J Hum Genet. 2017 12; 25(12):1303-1312. PMID: 29158552.
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    12. Costain G, Kannu P, Bowdin S. Genome-wide sequencing expands the phenotypic spectrum of EP300 variants. Eur J Med Genet. 2018 Mar; 61(3):125-129. PMID: 29133209.
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    13. Lionel AC, Costain G, Monfared N, Walker S, Reuter MS, Hosseini SM, Thiruvahindrapuram B, Merico D, Jobling R, Nalpathamkalam T, Pellecchia G, Sung WWL, Wang Z, Bikangaga P, Boelman C, Carter MT, Cordeiro D, Cytrynbaum C, Dell SD, Dhir P, Dowling JJ, Heon E, Hewson S, Hiraki L, Inbar-Feigenberg M, Klatt R, Kronick J, Laxer RM, Licht C, MacDonald H, Mercimek-Andrews S, Mendoza-Londono R, Piscione T, Schneider R, Schulze A, Silverman E, Siriwardena K, Snead OC, Sondheimer N, Sutherland J, Vincent A, Wasserman JD, Weksberg R, Shuman C, Carew C, Szego MJ, Hayeems RZ, Basran R, Stavropoulos DJ, Ray PN, Bowdin S, Meyn MS, Cohn RD, Scherer SW, Marshall CR. Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test. Genet Med. 2018 04; 20(4):435-443. PMID: 28771251.
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    14. Ouellette AC, Mathew J, Manickaraj AK, Manase G, Zahavich L, Wilson J, George K, Benson L, Bowdin S, Mital S. Clinical genetic testing in pediatric cardiomyopathy: Is bigger better? Clin Genet. 2018 Jan; 93(1):33-40. PMID: 28369760.
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    15. Zahavich L, Bowdin S, Mital S. Use of Clinical Exome Sequencing in Isolated Congenital Heart Disease. Circ Cardiovasc Genet. 2017 06; 10(3). PMID: 28473349.
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    16. Cohn I, Paton TA, Marshall CR, Basran R, Stavropoulos DJ, Ray PN, Monfared N, Hayeems RZ, Meyn MS, Bowdin S, Scherer SW, Cohn RD, Ito S. Genome sequencing as a platform for pharmacogenetic genotyping: a pediatric cohort study. NPJ Genom Med. 2017; 2:19. PMID: 29263831.
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    17. Anderson JA, Meyn MS, Shuman C, Zlotnik Shaul R, Mantella LE, Szego MJ, Bowdin S, Monfared N, Hayeems RZ. Parents perspectives on whole genome sequencing for their children: qualified enthusiasm? J Med Ethics. 2017 08; 43(8):535-539. PMID: 27888232.
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    18. Hibberd CE, Bowdin S, Arudchelvan Y, Forrest CR, Brakora KA, Marcucio RS, Gong SG. FGFR-associated craniosynostosis syndromes and gastrointestinal defects. . 2016 12; 170(12):3215-3221. PMID: 27481450.
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    19. Bowdin SC. The clinical utility of next-generation sequencing in the neonatal intensive care unit. CMAJ. 2016 08 09; 188(11):786-787. PMID: 27241783.
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    20. Bowdin S, Gilbert A, Bedoukian E, Carew C, Adam MP, Belmont J, Bernhardt B, Biesecker L, Bjornsson HT, Blitzer M, D'Alessandro LC, Deardorff MA, Demmer L, Elliott A, Feldman GL, Glass IA, Herman G, Hindorff L, Hisama F, Hudgins L, Innes AM, Jackson L, Jarvik G, Kim R, Korf B, Ledbetter DH, Li M, Liston E, Marshall C, Medne L, Meyn MS, Monfared N, Morton C, Mulvihill JJ, Plon SE, Rehm H, Roberts A, Shuman C, Spinner NB, Stavropoulos DJ, Valverde K, Waggoner DJ, Wilkens A, Cohn RD, Krantz ID. Recommendations for the integration of genomics into clinical practice. Genet Med. 2016 11; 18(11):1075-1084. PMID: 27171546.
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    21. Stavropoulos DJ, Merico D, Jobling R, Bowdin S, Monfared N, Thiruvahindrapuram B, Nalpathamkalam T, Pellecchia G, Yuen RKC, Szego MJ, Hayeems RZ, Shaul RZ, Brudno M, Girdea M, Frey B, Alipanahi B, Ahmed S, Babul-Hirji R, Porras RB, Carter MT, Chad L, Chaudhry A, Chitayat D, Doust SJ, Cytrynbaum C, Dupuis L, Ejaz R, Fishman L, Guerin A, Hashemi B, Helal M, Hewson S, Inbar-Feigenberg M, Kannu P, Karp N, Kim R, Kronick J, Liston E, MacDonald H, Mercimek-Mahmutoglu S, Mendoza-Londono R, Nasr E, Nimmo G, Parkinson N, Quercia N, Raiman J, Roifman M, Schulze A, Shugar A, Shuman C, Sinajon P, Siriwardena K, Weksberg R, Yoon G, Carew C, Erickson R, Leach RA, Klein R, Ray PN, Meyn MS, Scherer SW, Cohn RD, Marshall CR. Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine. NPJ Genom Med. 2016 Jan 13; 1. PMID: 28567303.
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    22. Bradley TJ, Bowdin SC, Morel CF, Pyeritz RE. The Expanding Clinical Spectrum of Extracardiovascular and Cardiovascular Manifestations of Heritable Thoracic Aortic Aneurysm and Dissection. Can J Cardiol. 2016 Jan; 32(1):86-99. PMID: 26724513.
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    23. Bradley TJ, Bowdin SC. Multidisciplinary Aortopathy Clinics Should Now Be the Standard of Care in Canada. Can J Cardiol. 2016 Jan; 32(1):8-12. PMID: 26621141.
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    24. Slaats GG, Isabella CR, Kroes HY, Dempsey JC, Gremmels H, Monroe GR, Phelps IG, Duran KJ, Adkins J, Kumar SA, Knutzen DM, Knoers NV, Mendelsohn NJ, Neubauer D, Mastroyianni SD, Vogt J, Worgan L, Karp N, Bowdin S, Glass IA, Parisi MA, Otto EA, Johnson CA, Hildebrandt F, van Haaften G, Giles RH, Doherty D. MKS1 regulates ciliary INPP5E levels in Joubert syndrome. J Med Genet. 2016 Jan; 53(1):62-72. PMID: 26490104.
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    25. Bowdin SC, Laberge AM, Verstraeten A, Loeys BL. Genetic Testing in Thoracic Aortic Disease--When, Why, and How? Can J Cardiol. 2016 Jan; 32(1):131-4. PMID: 26604122.
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    26. Atik T, Koparir A, Bademci G, Foster J, Altunoglu U, Mutlu GY, Bowdin S, Elcioglu N, Tayfun GA, Atik SS, Ozen M, Ozkinay F, Alanay Y, Kayserili H, Thiel S, Tekin M. Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome. Orphanet J Rare Dis. 2015 Sep 30; 10:128. PMID: 26419238.
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    27. Chaudhry A, Sabatini P, Han L, Ray PN, Forrest C, Bowdin S. Heterozygous mutations in ERF cause syndromic craniosynostosis with multiple suture involvement. . 2015 Nov; 167A(11):2544-7. PMID: 26097063.
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    28. D'Alessandro LC, Al Turki S, Manickaraj AK, Manase D, Mulder BJ, Bergin L, Rosenberg HC, Mondal T, Gordon E, Lougheed J, Smythe J, Devriendt K, Bhattacharya S, Watkins H, Bentham J, Bowdin S, Hurles ME, Mital S. Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect. Genet Med. 2016 Feb; 18(2):189-98. PMID: 25996639.
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    29. Bowdin SC, Hayeems RZ, Monfared N, Cohn RD, Meyn MS. The SickKids Genome Clinic: developing and evaluating a pediatric model for individualized genomic medicine. Clin Genet. 2016 Jan; 89(1):10-9. PMID: 25813238.
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    30. Anderson JA, Hayeems RZ, Shuman C, Szego MJ, Monfared N, Bowdin S, Zlotnik Shaul R, Meyn MS. Predictive genetic testing for adult-onset disorders in minors: a critical analysis of the arguments for and against the 2013 ACMG guidelines. Clin Genet. 2015 Apr; 87(4):301-10. PMID: 25046648.
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    31. Vaags AK, Bowdin S, Smith ML, Gilbert-Dussardier B, Brocke-Holmefjord KS, Sinopoli K, Gilles C, Haaland TB, Vincent-Delorme C, Lagrue E, Harbuz R, Walker S, Marshall CR, Houge G, Kalscheuer VM, Scherer SW, Minassian BA. Absent CNKSR2 causes seizures and intellectual, attention, and language deficits. Ann Neurol. 2014 Nov; 76(5):758-64. PMID: 25223753.
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    32. Bowdin S, Ray PN, Cohn RD, Meyn MS. The genome clinic: a multidisciplinary approach to assessing the opportunities and challenges of integrating genomic analysis into clinical care. Hum Mutat. 2014 May; 35(5):513-9. PMID: 24599881.
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    33. Morgenstern DA, Soh SY, Stavropoulos DJ, Bowdin S, Baruchel S, Malkin D, Meyn MS, Irwin MS. Metachronous neuroblastoma in an infant with germline translocation resulting in partial trisomy 2p: a role for ALK? J Pediatr Hematol Oncol. 2014 Apr; 36(3):e193-6. PMID: 24276038.
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    34. MacCarrick G, Black JH, Bowdin S, El-Hamamsy I, Frischmeyer-Guerrerio PA, Guerrerio AL, Sponseller PD, Loeys B, Dietz HC. Loeys-Dietz syndrome: a primer for diagnosis and management. Genet Med. 2014 Aug; 16(8):576-87. PMID: 24577266.
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    35. Szego MJ, Meyn MS, Anderson JA, Hayeems R, Shuman C, Monfared N, Bowdin S, Shaul RZ. Predictive genomic testing of children for adult onset disorders: a Canadian perspective. Am J Bioeth. 2014; 14(3):19-21. PMID: 24592833.
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    36. Lines MA, Hewson S, Halliday W, Sabatini PJ, Stockley T, Dipchand AI, Bowdin S, Siriwardena K. Danon Disease Due to a Novel LAMP2 Microduplication. JIMD Rep. 2014; 14:11-6. PMID: 24222494.
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    37. Girdea M, Dumitriu S, Fiume M, Bowdin S, Boycott KM, Chénier S, Chitayat D, Faghfoury H, Meyn MS, Ray PN, So J, Stavropoulos DJ, Brudno M. PhenoTips: patient phenotyping software for clinical and research use. Hum Mutat. 2013 Aug; 34(8):1057-65. PMID: 23636887.
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    38. Karp N, Grosse-Wortmann L, Bowdin S. Severe aortic stenosis, bicuspid aortic valve and atrial septal defect in a child with Joubert Syndrome and Related Disorders (JSRD) - a case report and review of congenital heart defects reported in the human ciliopathies. Eur J Med Genet. 2012 Nov; 55(11):605-10. PMID: 22910529.
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    39. Fenwick AL, Bowdin SC, Klatt RE, Wilkie AO. A deletion of FGFR2 creating a chimeric IIIb/IIIc exon in a child with Apert syndrome. BMC Med Genet. 2011 Sep 23; 12:122. PMID: 21943124.
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    40. Patel C, Hardy G, Cox P, Bowdin S, McKeown C, Russell AB. Mosaic trisomy 1q: The longest surviving case. . 2009 Aug; 149A(8):1795-800. PMID: 19610079.
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    41. Lim D, Bowdin SC, Tee L, Kirby GA, Blair E, Fryer A, Lam W, Oley C, Cole T, Brueton LA, Reik W, Macdonald F, Maher ER. Clinical and molecular genetic features of Beckwith-Wiedemann syndrome associated with assisted reproductive technologies. Hum Reprod. 2009 Mar; 24(3):741-7. PMID: 19073614.
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    42. Kent L, Bowdin S, Kirby GA, Cooper WN, Maher ER. Beckwith Weidemann syndrome: a behavioral phenotype-genotype study. . 2008 Oct 05; 147B(7):1295-7. PMID: 18314872.
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    43. Allen C, Bowdin S, Harrison RF, Sutcliffe AG, Brueton L, Kirby G, Kirkman-Brown J, Barrett C, Reardon W, Maher E. Pregnancy and perinatal outcomes after assisted reproduction: a comparative study. Ir J Med Sci. 2008 Sep; 177(3):233-41. PMID: 18521653.
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    44. Bowdin S, Allen C, Kirby G, Brueton L, Afnan M, Barratt C, Kirkman-Brown J, Harrison R, Maher ER, Reardon W. A survey of assisted reproductive technology births and imprinting disorders. Hum Reprod. 2007 Dec; 22(12):3237-40. PMID: 17921133.
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    45. Bowdin S, Phelan E, Watson R, McCreery KM, Reardon W. Rhombencephalosynapsis presenting antenatally with ventriculomegaly/hydrocephalus in a likely case of Gomez-López-Hernández syndrome. Clin Dysmorphol. 2007 Jan; 16(1):21-5. PMID: 17159510.
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    46. Sutcliffe AG, Peters CJ, Bowdin S, Temple K, Reardon W, Wilson L, Clayton-Smith J, Brueton LA, Bannister W, Maher ER. Assisted reproductive therapies and imprinting disorders--a preliminary British survey. Hum Reprod. 2006 Apr; 21(4):1009-11. PMID: 16361294.
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    47. Cooper WN, Luharia A, Evans GA, Raza H, Haire AC, Grundy R, Bowdin SC, Riccio A, Sebastio G, Bliek J, Schofield PN, Reik W, Macdonald F, Maher ER. Molecular subtypes and phenotypic expression of Beckwith-Wiedemann syndrome. Eur J Hum Genet. 2005 Sep; 13(9):1025-32. PMID: 15999116.
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    48. Maher ER, Brueton LA, Bowdin SC, Luharia A, Cooper W, Cole TR, Macdonald F, Sampson JR, Barratt CL, Reik W, Hawkins MM. Beckwith-Wiedemann syndrome and assisted reproduction technology (ART). J Med Genet. 2003 Jan; 40(1):62-4. PMID: 12525545.
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